Variant report

Variant	rs548387024
Chromosome Location	chr19:43918966-43918967
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr19:43918855-43919105	K562	blood:	n/a	chr19:43918926-43918936
2	NFYB	chr19:43918680-43919108	K562	blood:	n/a	chr19:43918926-43918936

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43918943-43918993	SAEC	small airway:	n/a
2	chr19:43918943-43918993	HCF	heart:	n/a
3	chr19:43918943-43918993	AG09309	skin:	n/a
4	chr19:43918943-43918993	SK-N-MC	brain:	n/a
5	chr19:43918943-43918993	GM12878	blood:	n/a
6	chr19:43918943-43918993	HCT-116	colon:	n/a
7	chr19:43918943-43918993	AG04449	skin:	fetal
8	chr19:43918943-43918993	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:43918943-43918993	HCPEpiC	choroid plexus:	n/a
10	chr19:43918943-43918993	HepG2	liver:	n/a
11	chr19:43918943-43918993	MCF-7	breast:	n/a
12	chr19:43918943-43918993	SK-N-SH	brain:	n/a
13	chr19:43918943-43918993	BJ	skin:	n/a
14	chr19:43918943-43918993	HAEpiC	amniotic membrane:	n/a
15	chr19:43918943-43918993	A549	lung:	n/a
16	chr19:43918943-43918993	AoSMC	blood vessel:	n/a
17	chr19:43918943-43918993	NHBE	bronchial:	n/a
18	chr19:43918943-43918993	IMR90	lung:	fetal
19	chr19:43918943-43918993	HRE	kidney:	n/a
20	chr19:43918943-43918993	LNCaP	prostate:	n/a
21	chr19:43918943-43918993	PFSK-1	brain:	n/a
22	chr19:43918943-43918993	ProgFib	skin:	n/a
23	chr19:43918943-43918993	NT2-D1	testis:	n/a
24	chr19:43918943-43918993	CMK	blood:	n/a
25	chr19:43918943-43918993	HRCEpiC	kidney:	n/a
26	chr19:43918943-43918993	H1-hESC	embryonic stem cell:	embryo
27	chr19:43918943-43918993	HMEC	breast:	n/a
28	chr19:43918943-43918993	SKMC	muscle:	n/a
29	chr19:43918943-43918993	PANC-1	pancreas:	n/a
30	chr19:43918943-43918993	HNPCEpiC	eye:	n/a
31	chr19:43918943-43918993	GM12891	blood:	n/a
32	chr19:43918943-43918993	T-47D	breast:	n/a
33	chr19:43918943-43918993	NB4	blood:	n/a
34	chr19:43918943-43918993	SK-N-SH_RA	brain:	n/a
35	chr19:43918943-43918993	ECC-1	luminal epithelium:	n/a
36	chr19:43918943-43918993	Caco-2	colon:	n/a
37	chr19:43918943-43918993	ovcar-3	ovarian:	n/a
38	chr19:43918943-43918993	AG10803	skin:	n/a
39	chr19:43918943-43918993	HIPEpiC	eye:	n/a
40	chr19:43918943-43918993	PrEC	prostate:	n/a
41	chr19:43918943-43918993	GM19239	blood:	n/a
42	chr19:43918943-43918993	HUVEC	blood vessel:	n/a
43	chr19:43918943-43918993	BE2_C	brain:	n/a
44	chr19:43918943-43918993	RPTEC	kidney:	n/a
45	chr19:43918943-43918993	Jurkat	blood:	n/a
46	chr19:43918943-43918993	NH-A	brain:	n/a
47	chr19:43918943-43918993	GM12892	blood:	n/a
48	chr19:43918943-43918993	HEK293	kidney:	embryo
49	chr19:43918943-43918993	Hela-S3	cervix:	n/a
50	chr19:43918943-43918993	HCM	heart:	n/a

No data

Variant related genes	Relation type
TEX101	TF binding region
TEX101	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv469666	chr19:43777147-43934334	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv482472	chr19:43777147-43934334	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
13	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1060280	chr19:43866823-43959685	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1057949	chr19:43885058-43935170	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv520852	chr19:43885085-43960114	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv579850	chr19:43885085-43960114	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv1066231	chr19:43918840-43954915	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43918200-43919000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:43918800-43919000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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